Canonical Allele Identifier: CA341278402
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001989C>T , CM000663.2:g.94001989C>T GRCh38
NC_000001.10:g.94467545C>T , CM000663.1:g.94467545C>T GRCh37
NC_000001.9:g.94240133C>T NCBI36
NG_009073.1:g.124161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6151G>A MANE Select ENSP00000359245.3:p.Ala2051Thr
ENST00000370225.3:c.6151G>A ENSP00000359245.3:p.Ala2051Thr
ENST00000465352.1:n.567G>A
ENST00000536513.5:c.2527G>A ENSP00000439707.2:p.Ala843Thr
NM_000350.2:c.6151G>A NP_000341.2:p.Ala2051Thr
NM_000350.3:c.6151G>A MANE Select NP_000341.2:p.Ala2051Thr